Sharing Biological Resources

The principal mission of the Fields Center for FSHD and Neuromuscular Research is to accelerate the pace of research and discovery in FSHD. Crucial to this mission is the availability of high-quality biological resources that can be shared with other investigators. To this end, Fields Center researchers at the University of Rochester and Leiden University Medical Center have generated a large number of biological samples from carefully characterized individuals with FSHD as well as normal controls.

Available Biological Samples:

Samples are collected and subjects are evaluated after informed consent is obtained. All procedures are performed under standardized protocols to assure sample and data quality. Genotyping for all subjects is performed at Leiden University Medical Center. The samples consist of:

Genetic and clinical characterization: All samples are derived from subjects who undergo a detailed clinical evaluation. Detailed genotyping is performed as well to fully characterize all samples. The clinical evaluation includes measurement of overall disease severity score, age of symptom onset, the strength of the muscle sampled, and the severity of the underlying pathological changes. Genetic analysis includes D4Z4 repeat size analysis on chromosomes 4 and 10, haplotype analysis (4qA or 4qB backgrounds and SSLP analysis) and D4Z4 methylation analysis. The details of the methods used to collect and characterize these samples are available here.

Normal control biological samples: In addition to the FSHD biological samples described above, the Fields center has a similar profile of normal control samples.

These high quality biological samples have been shared among Fields Center collaborators as well as with numerous non-Fields Center investigators within the FSHD research community. Multiple studies and a number of manuscripts were published using biological samples generated by the Fields Center (see reference list below).

Requesting Biological Samples:

Investigators interested in obtaining biological samples should contact the Fields Center by clicking on email link at the bottom of the page. Alternately, investigators can contact one of the Fields Center investigators directly.